Pierpont J W, Storm A L, Erickson R P, Kohn B R, Pettijohn L, DePaepe A
Steele Memorial Children's Research Center, University of Arizona, Tucson 85724, USA.
J Craniofac Genet Dev Biol. 1995 Apr-Jun;15(2):66-71.
Two regions were chosen for linkage studies to cleft lip with or without cleft palate (CL[P]) because they are break points of a balanced translocation in a patient with severe bilateral facial clefting. We used dinucleotide repeats to test chromosomal regions 1q21 and 22q11.2 for such linkage. We studied three families with apparently dominantly inherited CL(P). Families #1 and #2 are local Caucasian families that have not been previously reported; family #3 is a Belgian family that has been previously published [DePaepe, 1989]. Significant evidence against close linkage of the dinucleotide repeats (D1S104, D22S156, D22S264) with CL(P) using a dominant model was obtained. Three other candidate regions were tested (2q37,4q31, and 8p) with the dinucleotide repeats PAX3, D4S175, and LPL respectively. The LOD scores generated at these three loci are not statistically significant for demonstrating negative linkage at these regions. However, they may be used with other informative families in the future, since LOD scores for the same model of inheritance may be added together. Negative or neutral LOD scores were generated at all informative loci using an autosomal dominant model with decreased penetrance.
由于1q21和22q11.2是一名患有严重双侧面部裂的患者平衡易位的断点，因此选择了这两个区域进行唇裂伴或不伴腭裂（CL[P]）的连锁研究。我们使用二核苷酸重复序列来检测1q21和22q11.2染色体区域是否存在这种连锁。我们研究了三个明显呈显性遗传的CL(P)家系。家系1和家系2是当地白人家系，此前未被报道；家系3是一个比利时家系，此前已发表过相关研究[DePaepe，1989]。使用显性模型获得了反对二核苷酸重复序列（D1S104、D22S156、D22S264）与CL(P)紧密连锁的重要证据。分别使用二核苷酸重复序列PAX3、D4S175和LPL对其他三个候选区域（2q37、4q31和8p）进行了检测。在这三个位点产生的LOD分数对于证明这些区域的负连锁没有统计学意义。然而，它们未来可能会与其他信息丰富的家系一起使用，因为相同遗传模型的LOD分数可以相加。使用外显率降低的常染色体显性模型在所有信息位点产生了负或中性的LOD分数。
